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Human Norrin quantitates human Norrin in serum, plasma, supernatant. The assay will exclusively recognize both natural and recombinant human Norrin.
ALDH4A1 belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Gene aliases : EVR2, FEVR, ND, NDP
Gene ID : (Human) 4693
Gene symbol : NDP
Protein Aliases : Norrie disease (pseudoglioma), Norrie disease protein, Norrin, X-linked exudative vitreoretinopathy 2 protein
UniProt ID (Human) Q00604
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